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      Orthodontic treatment in a patient with unilateral open-bite and Becker muscular dystrophy. A 5-year follow-up

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          Abstract

          INTRODUCTION:

          Becker muscular dystrophy is an X-chromosomal linked anomaly characterized by progressive muscle wear and weakness. This case report shows the orthodontic treatment of a Becker muscular dystrophy patient with unilateral open bite.

          METHODS:

          To correct patient's malocclusion, general anesthesia and orthognathic surgery were not considered as an option. Conventional orthodontic treatment with intermaxillary elastics and muscular functional therapy were employed instead.

          RESULTS:

          After 36 months, open bite was corrected. The case remains stable after a 5-year post-treatment retention period.

          Translated abstract

          INTRODUÇÃO:

          a distrofia muscular de Becker é uma anomalia ligada ao cromossomo X, caracterizada por desgaste muscular progressivo e fraqueza. Este relato de caso mostra o tratamento ortodôntico de um paciente com distrofia muscular de Becker e mordida aberta unilateral.

          MÉTODOS:

          na correção de sua má oclusão, anestesia geral e cirurgia ortognática não foram consideradas como uma opção. Tratamento ortodôntico convencional com elásticos intermaxilares e terapia miofuncional foram empregados.

          RESULTADOS:

          após 36 meses, a mordida aberta foi corregida. O processo manteve-se estável após um período de cinco anos de retenção de pós-tratamento.

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          Most cited references17

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          Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

          A deficiency of the protein dystrophin has recently been shown to be the probable cause of Duchenne's muscular dystrophy. We sought to determine the relation between the clinical phenotype and the status of dystrophin in muscle-biopsy specimens from 103 patients with various neuromuscular disorders. We found very low levels (less than 3 percent of normal levels) or no dystrophin in the severe Duchenne phenotype (35 of 38 patients), low concentrations of dystrophin in the intermediate (outlier) phenotype (4 of 7), and dystrophin of abnormal molecular weight in the mild Becker phenotype (12 of 18). Normal levels of dystrophin of normal molecular weight were found in nearly all the patients (38 of 40) with 20 other neuromuscular disorders we studied. These data show the clinical consequences of both quantitative alterations (in Duchenne's and intermediate dystrophy) in a single protein. The biochemical assay for dystrophin should prove helpful in delineating myopathies that overlap clinically with Duchenne's and Becker's dystrophies, and it shows promise as an accurate diagnostic tool.
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            Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

            Becker muscular dystrophy (BMD) often results from in-frame mutations of the dystrophin gene that allow production of an altered but partially functional protein. To address potential structure-function relationships for the various domains of dystrophin, we examined both the dystrophin gene and protein in 68 patients with abnormal dystrophin. Eighty-six percent of BMD patients with dystrophin of altered size have deletions or duplications, and the observed sizes of dystrophin fit well with predictions based on DNA data. Deletions within the amino-terminal domain I tended to result in low levels of dystrophin and a more severe phenotype. The phenotypes of patients with deletions or duplications in the central rod domain were more variable. This region can be divided into three portions based on differences in clinical presentations of patients. Deletions around exons 4553 were most common and generally caused typical BMD; however, phenotypic variability among patients with similar mutations suggests that epigenetic and/or environmental factors play an important role in determining the clinical progression. In contrast, deletions or duplications in the proximal portion of this domain tended to cause severe cramps and myalgia. Finally, loss of the middle of this region probably causes a very mild phenotype, as only one such patient was found and his only symptom was elevated serum creatine phosphokinase levels.
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              Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy.

              Two-hundred eighty-three boys with Duchenne dystrophy and 10 with Becker dystrophy have been followed for up to 10 years in a protocol that accurately measured their function, strength, contractures, and back curvature. Clinical heterogeneity is noted. Patients whose muscles were stronger were more likely to die from a cardiomyopathy. Weaker patients died from respiratory failure. A series of milestones is defined, which is of use in following the illness in an individual patient. This approach permits a scoring system that allows the severity of the disease to be defined in an individual boy. Evaluation of physical therapy and surgical intervention shows that night splints and scoliosis surgery are effective forms of treatment.
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                Author and article information

                Journal
                Dental Press J Orthod
                Dental Press J Orthod
                dpjo
                Dental Press Journal of Orthodontics
                Dental Press International
                2176-9451
                2177-6709
                Nov-Dec 2014
                Nov-Dec 2014
                : 19
                : 6
                : 37-45
                Affiliations
                [1 ] Universidad del Valle, Colombia, Assistant Professor and Head of the Department of Orthodontics, Universidad del Valle, Colombia
                [2 ] CES University, Department of Orthodontics, Colombia, Assistant Professor, Department of Orthodontics, CES University, Colombia
                Author notes
                Contact address: Rosana Martínez Smit Transversal 27A sur, 42 B - 61, Medellin/Colombia E-mail: rosana29@ 123456gmail.com
                Article
                10.1590/2176-9451.19.6.037-045.oar
                4347409
                25628078
                b3dc129e-8763-4707-a2c9-a7a5ee6e9de4

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 10 June 2013
                : 01 November 2013
                Page count
                Figures: 10, Tables: 1, References: 17, Pages: 9
                Categories
                Articles

                muscular dystrophies,corrective orthodontics,open bite

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